Incidental Mutation 'RF056:Pdik1l'
| ID |
605267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdik1l
|
| Ensembl Gene |
ENSMUSG00000050890 |
| Gene Name |
PDLIM1 interacting kinase 1 like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF056 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
134002313-134015157 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to CCACCAA
at 134006827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061234]
[ENSMUST00000105876]
[ENSMUST00000105877]
[ENSMUST00000127857]
[ENSMUST00000145006]
|
| AlphaFold |
Q8QZR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061234
|
| SMART Domains |
Protein: ENSMUSP00000060381
Gene: ENSMUSG00000050890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
8 |
106 |
3e-8 |
PFAM |
|
Pfam:Pkinase
|
8 |
328 |
2.2e-52 |
PFAM |
|
Pfam:Pkinase_Tyr
|
99 |
329 |
5.5e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105876
|
| SMART Domains |
Protein: ENSMUSP00000101502
Gene: ENSMUSG00000050890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
8 |
106 |
3e-8 |
PFAM |
|
Pfam:Pkinase
|
8 |
328 |
2.2e-52 |
PFAM |
|
Pfam:Pkinase_Tyr
|
99 |
329 |
5.5e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105877
|
| SMART Domains |
Protein: ENSMUSP00000101503
Gene: ENSMUSG00000050890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
84 |
184 |
2.2e-7 |
PFAM |
|
Pfam:Pkinase
|
84 |
402 |
4.5e-51 |
PFAM |
|
Pfam:Pkinase_Tyr
|
185 |
405 |
6.3e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127857
|
| SMART Domains |
Protein: ENSMUSP00000117719
Gene: ENSMUSG00000050890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
8 |
113 |
3.4e-12 |
PFAM |
|
Pfam:Pkinase_Tyr
|
8 |
136 |
8.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145006
|
| SMART Domains |
Protein: ENSMUSP00000118116
Gene: ENSMUSG00000050890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
8 |
185 |
4.1e-24 |
PFAM |
|
Pfam:Pkinase
|
10 |
187 |
4.9e-38 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Begain |
CG |
CGCCGCAG |
12: 108,999,362 (GRCm39) |
|
probably benign |
Het |
| Bhlhb9 |
C |
T |
X: 134,791,239 (GRCm39) |
L484F |
possibly damaging |
Het |
| Cacna1f |
GA |
GAGTA |
X: 7,486,314 (GRCm39) |
|
probably null |
Het |
| Chga |
GCA |
GCATCA |
12: 102,527,683 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
CCT |
CCTACT |
17: 47,047,670 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
CACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
CACACTGCCCAGGGATGTGACAGAGACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,463 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
T |
TAGAGGTGGAAGTGGTGGAAGTGGTGGA |
7: 30,466,632 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
GCCGCC |
GCCGCCTCCGCC |
4: 141,602,078 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
C |
CAGCAGA |
2: 83,643,240 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
CTGAGGGAGGA |
CTGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTATGAGGGAGGA |
7: 44,149,951 (GRCm39) |
|
probably null |
Het |
| Gm10181 |
GAGAGAGAGAGAGA |
G |
9: 25,000,761 (GRCm39) |
|
probably null |
Het |
| Gm16494 |
TTT |
TTTT |
17: 47,327,841 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
CCACAGCTGCAG |
CCACAGCTGCAGCAGCAGCACAGCTGCAG |
4: 59,610,647 (GRCm39) |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,414 (GRCm39) |
|
probably benign |
Het |
| Nelfe |
A |
AGCGGGATCGAGACAGAGACAAAGG |
17: 35,073,047 (GRCm39) |
|
probably benign |
Het |
| Ngfr |
CAGG |
C |
11: 95,478,337 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TACACGTTAGCAGTGAGGAGCAAGCTGAGAC |
TACACGTTAGCAGTGAGGAGCAAGCTGAGACACACGTTAGCAGTGAGGAGCAAGCTGAGAC |
2: 119,458,062 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAGTGAGGAGCAAGCTGAGA |
CAGTGAGGAGCAAGCTGAGATACACGTTAGGAGTGAGGAGCAAGCTGAGA |
2: 119,458,072 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GTTAGCAGTGAGGAGCAAGCTGAGA |
GTTAGCAGTGAGGAGCAAGCTGAGATACACTTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,067 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
A |
ATAGG |
9: 39,598,050 (GRCm39) |
|
probably null |
Het |
| Pqbp1 |
ACACACACACACC |
A |
X: 7,764,998 (GRCm39) |
|
probably benign |
Het |
| Rbm28 |
AGCAACACCTCTCACCTGGGGCAGAAGCA |
AGCAACACCTCTCACCTGGGGCAGAAGCAACACCTCTCACCTGGGGCAGAAGCA |
6: 29,157,052 (GRCm39) |
|
probably null |
Het |
| Rnf126 |
GAGGAC |
G |
10: 79,594,976 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
CAGAGCCTGTGGTGCTCGCAGG |
C |
3: 95,673,631 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
CGG |
CGGAAGAGG |
8: 85,682,799 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GCAGCG |
GCAGCGCCAGCG |
8: 85,682,801 (GRCm39) |
|
probably benign |
Het |
| Sbp |
ACAAAGATGCTGACA |
ACAAAGATGCTGACAGCAAAGATGCTGACA |
17: 24,164,340 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
GTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,475 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,500 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2b |
CCTGTG |
CCTGTGGCTGTG |
11: 32,373,055 (GRCm39) |
|
probably benign |
Het |
| Taf1a |
CACGTTGAAGCTGTAGGTAAGTGAGACAGCGTTGAAGCTGTAGGTAAGTGAGACA |
CGCGTTGAAGCTGTAGGTAAGTGAGACA |
1: 183,172,369 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
TCCCCTTGGC |
TCCCCTTGGCTGCTGAGATGGGCACTTTCCTAGAGACCCCCTTGGC |
18: 60,966,647 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
CCAG |
CCAGCAG |
6: 115,537,025 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CAGAGCCAGAGCCAGAGCAAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,359 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
CCCAGGC |
CCCAGGCCCAGGGCCAGGC |
6: 125,013,453 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pdik1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02439:Pdik1l
|
APN |
4 |
134,006,015 (GRCm39) |
missense |
probably benign |
0.11 |
|
FR4304:Pdik1l
|
UTSW |
4 |
134,006,685 (GRCm39) |
frame shift |
probably null |
|
|
FR4340:Pdik1l
|
UTSW |
4 |
134,006,823 (GRCm39) |
intron |
probably benign |
|
|
FR4342:Pdik1l
|
UTSW |
4 |
134,006,820 (GRCm39) |
intron |
probably benign |
|
|
FR4548:Pdik1l
|
UTSW |
4 |
134,006,823 (GRCm39) |
intron |
probably benign |
|
|
FR4589:Pdik1l
|
UTSW |
4 |
134,006,680 (GRCm39) |
frame shift |
probably null |
|
|
FR4589:Pdik1l
|
UTSW |
4 |
134,006,679 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Pdik1l
|
UTSW |
4 |
134,006,817 (GRCm39) |
intron |
probably benign |
|
|
FR4737:Pdik1l
|
UTSW |
4 |
134,006,678 (GRCm39) |
frame shift |
probably null |
|
|
FR4976:Pdik1l
|
UTSW |
4 |
134,006,817 (GRCm39) |
intron |
probably benign |
|
|
R1867:Pdik1l
|
UTSW |
4 |
134,006,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Pdik1l
|
UTSW |
4 |
134,011,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2303:Pdik1l
|
UTSW |
4 |
134,011,559 (GRCm39) |
nonsense |
probably null |
|
|
R2398:Pdik1l
|
UTSW |
4 |
134,005,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3162:Pdik1l
|
UTSW |
4 |
134,011,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Pdik1l
|
UTSW |
4 |
134,011,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Pdik1l
|
UTSW |
4 |
134,006,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4711:Pdik1l
|
UTSW |
4 |
134,006,301 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5602:Pdik1l
|
UTSW |
4 |
134,011,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5822:Pdik1l
|
UTSW |
4 |
134,014,474 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6031:Pdik1l
|
UTSW |
4 |
134,006,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6031:Pdik1l
|
UTSW |
4 |
134,006,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7517:Pdik1l
|
UTSW |
4 |
134,005,736 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7705:Pdik1l
|
UTSW |
4 |
134,006,804 (GRCm39) |
missense |
unknown |
|
|
R8203:Pdik1l
|
UTSW |
4 |
134,006,676 (GRCm39) |
missense |
unknown |
|
|
R8524:Pdik1l
|
UTSW |
4 |
134,013,921 (GRCm39) |
missense |
probably benign |
|
|
R9694:Pdik1l
|
UTSW |
4 |
134,006,711 (GRCm39) |
missense |
unknown |
|
|
R9743:Pdik1l
|
UTSW |
4 |
134,011,815 (GRCm39) |
missense |
probably benign |
|
|
RF002:Pdik1l
|
UTSW |
4 |
134,006,686 (GRCm39) |
frame shift |
probably null |
|
|
RF007:Pdik1l
|
UTSW |
4 |
134,006,679 (GRCm39) |
frame shift |
probably null |
|
|
RF008:Pdik1l
|
UTSW |
4 |
134,006,822 (GRCm39) |
intron |
probably benign |
|
|
RF022:Pdik1l
|
UTSW |
4 |
134,006,678 (GRCm39) |
frame shift |
probably null |
|
|
RF025:Pdik1l
|
UTSW |
4 |
134,013,905 (GRCm39) |
frame shift |
probably null |
|
|
RF026:Pdik1l
|
UTSW |
4 |
134,013,905 (GRCm39) |
intron |
probably benign |
|
|
RF030:Pdik1l
|
UTSW |
4 |
134,006,827 (GRCm39) |
intron |
probably benign |
|
|
RF031:Pdik1l
|
UTSW |
4 |
134,006,685 (GRCm39) |
frame shift |
probably null |
|
|
RF034:Pdik1l
|
UTSW |
4 |
134,006,685 (GRCm39) |
frame shift |
probably null |
|
|
RF035:Pdik1l
|
UTSW |
4 |
134,006,821 (GRCm39) |
intron |
probably benign |
|
|
RF040:Pdik1l
|
UTSW |
4 |
134,006,826 (GRCm39) |
intron |
probably benign |
|
|
RF048:Pdik1l
|
UTSW |
4 |
134,006,683 (GRCm39) |
frame shift |
probably null |
|
|
RF056:Pdik1l
|
UTSW |
4 |
134,006,813 (GRCm39) |
intron |
probably benign |
|
|
RF057:Pdik1l
|
UTSW |
4 |
134,006,679 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGTAGTTTAAGATGCACAGAGGTTG -3'
(R):5'- AGGCAGATCTCTGAGTTCGAG -3'
Sequencing Primer
(F):5'- CTCAGGTCCTCAATAAGCATGGTG -3'
(R):5'- GGCCAGCCTGGTCTATAAAGTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation